Ranking of non-coding pathogenic variants and putative essential regions of the human genome
Sign Up to like & getrecommendations! Published in 2019 at "Nature Communications"
DOI: 10.1038/s41467-019-13212-3
Abstract: A gene is considered essential if loss of function results in loss of viability, fitness or in disease. This concept is well established for coding genes; however, non-coding regions are thought less likely to be… read more here.
Keywords: ranking non; coding pathogenic; pathogenic variants; variants non ... See more keywords
Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.940294
Abstract: Background Cornelia de Lange syndrome (CdLS) is a genetic disorder caused by variants in cohesion genes including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. According to the 2018 consensus statement, a patient with clinical scored ≥… read more here.
Keywords: variants non; cohesion genes; cohort; cohesion ... See more keywords